HGVS | Genome Assembly |
---|---|
NC_000005.10:g.140114467A>C , CM000667.2:g.140114467A>C | GRCh38 |
NC_000005.9:g.139494052A>C , CM000667.1:g.139494052A>C | GRCh37 |
NC_000005.8:g.139474236A>C | NCBI36 |
NG_041813.1:g.5345A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331327.5:c.286A>C MANE Select | ENSP00000332706.3:p.Asn96His | |
ENST00000505703.2:c.286A>C | ENSP00000498560.1:p.Asn96His | |
ENST00000651386.1:c.286A>C | ENSP00000499133.1:p.Asn96His | |
ENST00000331327.4:c.286A>C | ENSP00000332706.3:p.Asn96His | |
NM_005859.4:c.286A>C | NP_005850.1:p.Asn96His | |
NM_005859.5:c.286A>C MANE Select | NP_005850.1:p.Asn96His |